Molecular basis of choroideremia (CHM): Mutations involving the Rab escort protein-1 (REP-1) gene

Human Mutation

Volumn 9, Issue 2, 1997, Pages 110-117

  Van Den Hurk, J A J M ^a   Schwartz, M ^b   Van Bokhoven, H ^a   Van De Pol, T J R ^a   Bogerd, L ^a   Pinckers, A J L G ^a   Bleeker Wagemakers, E M ^c   Pawlowitzki, I H ^d   Ruther K ^e   Ropers, H H ^a   Cremers, F P M ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b University of Copenhagen   (Denmark)

^c IOI   (Netherlands)

^d UNIVERSITY OF MÜNSTER   (Germany)

^e UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

choroideremia (CHM); mutations; rab escort protein 1 (REP 1)

Indexed keywords

CARRIER PROTEIN; RAB PROTEIN;

ARTICLE; CHOROIDEREMIA; CHROMOSOME TRANSLOCATION; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; HUMAN; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL;

EID: 16944364182     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)9:2<110::AID-HUMU2>3.0.CO;2-D     Document Type: Article

References (9)

1. Alexandrov K, Horiuchi H, Steele-Mortimer O, Seabra MC, Zerial M (1994) Rab escort protein-1 is a multifunctional protein that accompanies newly prenylated rab proteins to their target membranes. EMBO J 13:5262-5273.
2. Andres DA, Seabra MC, Brown MS, Armstrong SA, Smeland TE, Cremers FPM, Goldstein JL (1993) cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein. Cell 73:1091-1099.
3. Beaudet AL, Tsui L-P (1993) A suggested nomenclature for designating mutations. Hum Mutat 2:245-248.
4. Benito-Moreno RM, Miaczynska M, Bauer BE, Schweyen RJ, Ragnini A (1994) Mrsóp, the yeast homologue of the mammalian choroideraemia protein: Immunological evidence for its function as the Ypt1p Rab escort protein. Curr Genet 27:23-25.
5. Carrel L, Willard HF (1993) The X-linked choroideremia gene escapes X chromosome inactivation. Am J Hum Genet 53(suppl):abst 42.
6. Cotton RGH, Rodrigues NR, Campbell RD (1988) Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. Proc Natl Acad Sci USA 85:4397-4401.
7. Cremers FPM, Ropers H-H (1994) Choroideremia. In Wright A, Jay B (eds): Molecular Genetics of Inherited Eye Disorders. Chur: Harwood Academic Publishers GMBH, pp 303-319.
8. Cremers FPM, Brunsmann F, van de Pol TJR, Pawlowitzki IH, Paulsen K, Wieringa B, Ropers H-H (1987) Deletion of the DXS165 locus in patients with classical choroideremia. Clin Genet 32:421-423.
9. Harris GS, Miller JR (1968) Choroideremia. Visual defects in a heterozygote. Arch Ophthalmol 80:423-429.